苏格兰一座岛屿上的家族性癌症。
Familial cancer on a Scottish island.
作者信息
Hill R D
出版信息
Br Med J. 1976 Aug 14;2(6032):401-2. doi: 10.1136/bmj.2.6032.401.
Abstract
When the causes of death were determined in 18 relations of a child with Fanconi's anaemia 10 deaths were found to be due to carcinoma of various organs. Cases of osteogenic sarcoma, leukaemia, and Marfan's syndrome were also discovered among relatives. The family was from a remote community in the hebrides and there was considerable intermarriage. Suggestive evidence of heterozygosity was found by chromosome analysis.
摘要
在对一名范科尼贫血患儿的18名亲属的死因进行判定时，发现10例死亡是由各器官的癌症所致。在亲属中还发现了骨肉瘤、白血病和马方综合征的病例。这个家族来自赫布里底群岛的一个偏远社区，存在大量近亲通婚现象。通过染色体分析发现了杂合性的提示性证据。
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Blood. 1959 Sep;14:1008-14.
2
3
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Blood. 1971 Jan;37(1):96-112.
4
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Cancer Res. 1965 Sep;25(8):1320-6.
5
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JAMA. 1971 Apr 12;216(2):325-6.
6
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7
Leukemia in Fanconi's anemia: cytogenetic and tumor virus susceptibility studies.
Blood. 1970 Sep;36(3):341-52.
8
Population structure of Barra (Outer Hebrides).
Ann Hum Genet. 1976 Jan;39(3):339-52. doi: 10.1111/j.1469-1809.1976.tb00139.x.
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